R8L (p.Arg8Leu) variant of KCNT1 (Q5JUK3)
R8L (p.Arg8Leu) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- rs373446490
- gnomAD 9-135702302-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0405
- REVEL 0.01
- CADD 3.48
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available